Alport syndrome- dominant type
Overview
A rare syndrome characterized by kidney problems and hearing loss. The condition is inherited as a dominant trait.
Symptoms
* Nephritis * Sensorineural hearing loss * Blood in the urine * Kidney abnormalities * Kidney damage
Diagnosis
Currently, diagnosis of Alport Syndrome relies on careful evaluation of the patient’s clinical features, family history and results of tissue biopsies. Alport Syndrome produces unique changes in the walls of the blood vessels of the glomeruli that can be detected by electron microscopy of kidney biopsy material. Kidney biopsies can also be tested for the presence or absence of the type IV collagen alpha-3, alpha-4 and alpha-5 chains. This information is often very helpful in confi rming a suspected diagnosis of Alport Syndrome. An alternative diagnostic procedure is skin biopsy. The type IV collagen alpha-5 chain is normally present in the skin. In most men with the X-linked form of Alport Syndrome the alpha- 5 chain is completely missing from the skin.
Treatment
Currently there is no specifi c treatment for Alport Syndrome. The same treatments that are used in people with high blood pressure and other symptoms of kidney disease are used in people with Alport Syndrome. Kidney transplantation is usually very successful in people with Alport Syndrome and is the best treatment when end-stage kidney failure is approaching. Medical researchers are very interested in understanding why people with Alport Syndrome develop kidney failure and in developing treatments that can slow or prevent the development of kidney failure. Several treatment approaches are being tested in animals with Alport Syndrome.